2. Academic Validation
  3. Williams-Beuren Syndrome and Burkitt Leukemia

Williams-Beuren Syndrome and Burkitt Leukemia

  • J Pediatr Hematol Oncol. 2013 Jan;35(1):e30-2. doi: 10.1097/MPH.0b013e318270672f.
Nataliya Zhukova 1,  Ahmed Naqvi
Affiliations

Affiliation

  • 1 Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada. nataliya.zhukova@sickkids.ca
PMID: 23018576 DOI: 10.1097/MPH.0b013e318270672f
Abstract

Williams-Beuren Syndrome (WBS) is associated with constitutional deletion of 7q11.23, which includes the elastin gene. Cytogenetic abnormalities of chromosome 7 are frequently described in several human malignancies. Here, we report Burkitt Leukemia in an 8-year-old boy with WBS. In this patient, constitutional deletion of chromosome 7q11.23 including BCL7B was confirmed. WBS may predispose patients to Burkitt Leukemia.

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